Related gene-specific medical variations for Gene (Select 81889) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3125263	NM_001163560.3(MEIOB):c.1407A>C (p.Lys469Asn)	FAHD1, MEIOB (K469N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125262	NM_001163560.3(MEIOB):c.1309G>A (p.Val437Ile)	FAHD1, MEIOB (V437I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125261	NM_001163560.3(MEIOB):c.1295T>G (p.Ile432Ser)	FAHD1, MEIOB (I432S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091595	NM_031208.4(FAHD1):c.184A>C (p.Thr62Pro)	FAHD1, LOC130058194 (T62P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091594	NM_031208.4(FAHD1):c.172A>G (p.Met58Val)	FAHD1, LOC130058194 (M58V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2691781	NM_001163560.3(MEIOB):c.1072_1073del (p.Met358fs)	FAHD1, MEIOB (M358fs)	Deletion (frameshift variant +1 more)	Premature ovarian failure 23 +1 more	GPathogenic
Select item 2691779	NM_001163560.3(MEIOB):c.1218G>A (p.Thr406=)	FAHD1, MEIOB	Single nucleotide variant (synonymous variant +1 more)	Premature ovarian failure 23	GPathogenic
Select item 2610490	NM_001163560.3(MEIOB):c.1320C>A (p.His440Gln)	FAHD1, MEIOB (H411Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512500	NM_001163560.3(MEIOB):c.1243G>A (p.Asp415Asn)	FAHD1, MEIOB (D415N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492907	NM_001163560.3(MEIOB):c.1276C>A (p.Leu426Ile)	FAHD1, MEIOB (L426I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483307	NM_001163560.3(MEIOB):c.1309G>C (p.Val437Leu)	FAHD1, MEIOB (V408L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371286	NM_031208.4(FAHD1):c.187C>T (p.Arg63Cys)	FAHD1, LOC130058194 (R63C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363716	NM_001163560.3(MEIOB):c.1217C>T (p.Thr406Met)	FAHD1, MEIOB (T406M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257141	NM_031208.4(FAHD1):c.169C>A (p.Leu57Ile)	FAHD1, LOC130058194 (L57I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2081185	NM_001163560.3(MEIOB):c.1035-1G>A	FAHD1, MEIOB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 2078114	NM_001163560.3(MEIOB):c.1207_1208del (p.Leu403fs)	FAHD1, MEIOB (L403fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1328958	NM_001163560.3(MEIOB):c.1118_1121del (p.Phe373fs)	FAHD1, MEIOB (F373fs)	Deletion (frameshift variant +1 more)	Azoospermia	GPathogenic
Select item 715773	NM_001163560.3(MEIOB):c.1306-5C>T	MEIOB, FAHD1	Single nucleotide variant (intron variant)	not provided	GBenign